More than 300 people are expected to visit Anthony’s Ristorante in Upper Darby tonight to support a South Carolina girl who has been diagnosed with Sanfilippo Syndrome, a terminal disease that causes blindness, intellectual disability and deteriorating mobility.

Eliza O’Neill is a 3½-year-old girl who enjoys dressing up and wearing hats, according to her cousin, Agnes Spatichia. Though O’Neill lives in South Carolina with her immediate family, most of her extended family lives in Delaware County, where they are rallying behind her.

The O’Neill family is hosting a fundraiser to benefit the Cure Sanfilippo Foundation, which raises donations to find treatment for the disease, officially known as mucopolysaccharidoses III. Glenn O’Neill, Eliza’s father, will be in town for the event.

“We’re just a very, very close family,” Spatichia said. “We’re just trying to do something to help his family and his child.”

Advertisement

The fundraiser will include a full buffet, raffle prizes and silent and live auctions. Auction items include a timeshare at Disney World, golf trips, jewelry and restaurant gift cards.

Sanfilippo Syndrome occurs when enzymes needed to break down sugar chains are missing or defective. Instead of disposing sugar molecules, the body stores them in cells, causing progressive damage. Life expectancy is 10-20 years.

Researchers and clinicians are ready to bring potential treatments for both Sanfilippo A and B to human clinical trials, according to the Team Sanfilippo Foundation. The two lead products seek to prevent or reverse the genetic errors that cause the Sanfilippo Syndrome. Safety studies show the products have been well-tolerated with minimal side effects in large animal models.

For the O’Neill family, efforts to find treatment before Eliza’s condition diminishes are urgent. The family has been planning the fundraiser since November.

“It is literally a race against time,” Spatichia said.

Most children with Sanfilippo Syndrome experience seizures, sensory loss, severe intellectual impairment and partial paralysis, according to the Team Sanfilippo Foundation.

Initially children with the disease begin to lag behind their peers and develop behavioral issues. A second stage brings restlessness, sleep disturbances and a gradual loss of learning and understanding. During the final stage, children eventually lose their ability to walk.

About the Author

John Kopp is a reporter for the Delaware County Daily Times, who covers state and county politics. Follow him on Twitter @DT_JohnKopp Reach the author at jkopp@delcotimes.com
or follow John on Twitter: @DT_JohnKopp.